Medical Genetics - EA0110039

• Title: Medical Genetics
• Guaranteed by: Ústav lékařské genetiky (14-550)
• Faculty: Faculty of Medicine in Pilsen
• Actual: from 2023
• Semester: winter
• Points: 1
• E-Credits: 1
• Examination process: winter s.:
• Hours per week, examination: winter s.:10/0, C [HS]
• Extent per academic year: 2 [days]
• Capacity: unknown / unknown (unknown)
• Min. number of students: unlimited
• 4EU+: no
• Virtual mobility / capacity: no
• State of the course: not taught
• Language: English
• Teaching methods: full-time
• Teaching methods: full-time
• Guarantor: MUDr. Ivan Šubrt, Ph.D.
• Interchangeability : EAP0105550
• Is co-requisite for: EA0112023, EA0112024
• Is incompatible with: EAP0105550
• Is interchangeable with: EAP0105550

Annotation

English

Last update: KRAJDL (17.07.2003)

Classification of genetic disorders. Genealogic studies. Monogenic and multifactorial types of inheritance. Congenital birth defects; aetiology, genetic risk. Cytogenetic techniques. Congenital and acquired chromosomal aberrations. Techniques of molecular diagnosis; utilisation in diagnosis of genetic disorders. Cancer genetics. Genetic counselling. Genetic screening in pregnant women; prenatal diagnosis. Ethical issues in medical genetics.

Czech

Last update: KRAJDL (17.07.2003)

Klasifikace genetických onemocnění. Genealogické vyšetření. Monogenní a multifaktoriální dědičnost. Vrozené vady, etiologie a genetické riziko. Cytogenetické vyšetřovací metody. Vrozené a získané chromosomální aberace. Metody molekulární diagnostiky; využití v diagnostice genetických onemocnění. Genetika nádorů. Genetické poradenství. Genetický screening u těhotných žen, prenatální diagnostika. Etické otázky v lékařské genetice.

Literature

Last update: Mgr. Markéta Hejnalová (02.10.2020)

• Selected literature:

  ·         Pritchard, D.J., Korf, B.R.: Základy lékařské genetiky, Galén, Praha, 2007

  ·         Průša, R.: Základy analytických metod v klinické molekulární biologii, 2. LF UK a Lambda Bio-Med, Praha, 1997 (též dostupné na http://www.lf2.cuni.cz/Projekty/prusa-dna/newlook/defa1.htm)

  ·         Snustad, D.P., Simmons, M.J.: Genetika (Principles of Genetics), MU, Brno, 2009

  ·         Kočárek, E., Pánek M., Novotná D.: Klinická cytogenetika I., Karolinum, Praha, 2006

  ·         Šmarda, J. a kol.: Metody molekulární biologie, MU, Brno, 2005

  Some internet resources:

  https://www.ncbi.nlm.nih.gov/

  http://www.wikiskripta.eu/index.php/Port%C3%A1l:L%C3%A9ka%C5%99sk%C3%A1_biologie_a_genetika

Syllabus

Last update: Mgr. Martina Buriánková (26.01.2021)

History of medical genetics

Basic terms of medical genetics

Molecular basis of pathological genetic states

Types of Mendelian inheritance (AD,AR,GR,GD, mitochondrial inheritance)

Mendelian disorders

Laboratory methods of clinical cytogenetics

Laboratory methods of molecular genetics

Chromosomal based disorders

Multifactorial disorders

Birth defects and congenital disorders, teratogenic agents in pregnancy

Basic syndromology

Basic genetic conselling

Genetic prevention

Genetic testing

Prenatal screening and diagnosis

Ethical issues in medical genetics